| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 6172380 | intergenic variant | A/G | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 16 | 11136846 | intron variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 5 | 40486794 | intron variant | G/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2018 | |||||||||
|
6 | 31384336 | upstream gene variant | T/C | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 17 | 39917778 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 2 | 102316052 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
10 | 9011169 | regulatory region variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.080 | 3 | 188411191 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
4 | 38762491 | upstream gene variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38783057 | upstream gene variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 111107582 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.040 | 5 | 111100751 | intron variant | C/T | snv | 0.53 | 0.54 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
5 | 40493132 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
5 | 40530784 | intron variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 111102658 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 111117147 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
5 | 111114886 | intron variant | T/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 40569851 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.080 | 5 | 110854353 | intergenic variant | T/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
5 | 111113658 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 40519249 | intron variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 40575737 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 |